ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14758_14778dup (p.Ile4926_Val4927insThrPhePhePhePheValIle)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003491419 SCV004236863 uncertain significance not provided 2023-05-18 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV004763696 SCV005367954 likely pathogenic RYR1-related myopathy 2024-06-14 no assertion criteria provided clinical testing

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